LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Bardet-Biedl syndrome (BBS) is an inherited ciliopathy affecting multiple organs and systems with wide clinical and genetic heterogeneity. To date, biallelic variants of the LZTFL1 gene have been reported only in six patients with BBS. We identified a homozygous LZTFL1 nonsense variant in a boy presenting with classical BBS features. In addition, he showed a more pronounced cognitive impairment than previously reported subjects and severe short stature, matching the phenotype displayed by some other patients with LZTFL1 variants and lztfl1 knock-out mice. This case report contributes to a better understanding of the clinical spectrum associated with LZTFL1 pathogenic variants, and highlights possible genotype-phenotype correlations.

Gaze Orienting in the Social World: An Exploration of the Role Played by Caregiving Vocal and Tactile Behaviors in Infants with Visual Impairment and in Sighted Controls.

Infant attention is a cognitive function that underlines sensory-motor integration processes at the interface between the baby and the surrounding physical and socio-relational environment, mainly with the caregivers. The investigation of the role of non-visual inputs (i.e., vocal and tactile) provided by the caregivers in shaping infants' attention in the context of visual impairment is relevant from both a theoretical and clinical point of view. This study investigated the social attention (i.e., gaze orientation) skills in a group of visually impaired (VI) and age-matched sighted controls (SCs) between 9 and 12 months of age. Moreover, the role of VI severity and maternal vocalizations and touch in shaping the social attention were investigated. Overall, 45 infants and their mothers participated in a video-recorded 4 min interaction procedure, including a play and a still-face episode. The infants' gaze orientation (i.e., mother-directed, object-directed, or unfocused) and the types of maternal vocalizations and touch (i.e., socio-cognitive, affective) were micro-analytically coded. Maternal vocalizations and touch were found to influence gaze orientation differently in VI infants compared SCs. Moreover, the group comparisons during the play episode showed that controls were predominantly oriented to the mothers, while VI infants were less socially oriented. Visual impairment severity did not emerge as linked with social attention. These findings contribute to our understanding of socio-cognitive developmental trajectories in VI infants and highlight the need for tailored interventions to promote optimal outcomes for VI populations.

Cognitive function in DMD carriers: personal case series and literature review.

Improvement in clinical conditions allowed physicians to pay more attention to the cognitive function in DMD patients, leading to description of a cognitive impairment not only in affected males, but in female carriers as well. This study aimed to investigate the cognitive involvement in a cohort of DMD carriers and to summarize the current knowledge about the intellectual involvement and neuropsychological profile in DMD/BMD carriers. Our case series consisted of 22 carrier patients from two different centers (IRCCS Mondino, Pavia and Policlinico Gemelli, Rome), for whom we retrospectively collected cognitive, clinical and genetic data. For literature review, we selected 9 studies published in English language from 2011 to 2023 and cited in PubMed. We found that the average IQ of DMD carriers was lower (74; very low) than the average score on normal curve (100 as average standard score). Furthermore, about 50% of them fell in the "extremely low IQ" range, compared with 2-3% of general population. A higher incidence of intellectual disability was confirmed in symptomatic DMD carriers (mean IQ 66; extremely low) from IRCCS Mondino, but not in the asymptomatic ones (mean IQ 99; average), when compared to the general population. Current literature, albeit limited, seems to confirm the presence of a cognitive impairment in carriers, although milder than in affected males but with a similar neuropsychological profile. However, further studies are necessary to delve deeper into this issue and provide adequate educational support.

Peripheral vascular insufficiency impairs functional capacity in patients with heart failure / Insuficiência vascular periférica compromete a capacidade funcional no paciente com insuficiência cardíaca

INTRODUCTION: Heart failure (HF) is a complex syndrome in which effort limitation is associated with deterioration of peripheral musculature. Improving survival rates among these patients have led to the appearance of cases in which other pathologies are associated with HF, such as peripheral vascular insufficiency (PVI). The combination of these two pathologies is common, with significant repercussions for affected patients. OBJECTIVE: To compare functional limitations and quality of life between patients with HF in isolation or HF + PVI. METHOD: Twelve patients with HF+PVI were paired to 12 patients with HF in isolation. All had ejection fraction <40%. The following were conducted: 6 minute walk test (6MWT), chair test (CT), step test (ST), one repetition maximum test (1RM) and quality of life questionnaire. RESULTS: The results for the 6MWT (311±27 vs. 447±29), ST (49±3 vs. 81±10) and CT (17±1 vs. 21±1) were lower in the HF+PVI group than in the HF group (p<0.05). The HF+PVI group exhibited a reduction in the number of steps taken from the first to the second minute of the ST, in relation to the HF group. The HF group exhibited better HR recovery than the HF+PVI group (50±4 vs. 26±3; p<0.05). No differences were found in results for the Borg scale, the peripheral muscle strength test (1RM) or the questionnaires (p>0.05). CONCLUSIONS: The study participants who had mixed disease exhibited a greater degree of functional impairment than the group with HF, without reporting worsened quality of life...

INTRODUÇÃO: A insuficiência Cardíaca (IC) é uma síndrome complexa e a limitação ao esforço está associada à piora da musculatura periférica. Devido à melhora na sobrevida destes pacientes, observa-se o surgimento de patologias associadas à IC, como a insuficiência vascular periférica (IVP). A associação das duas patologias é comum e com grandes prejuízos aos pacientes acometidos. OBJETIVO: Comparar as limitações funcionais e a qualidade de vida em IC isolada e IC + IVP. MÉTODO: Doze pacientes com IC+IVP foram pareados a 12 pacientes com IC isolada. Todos possuíam fração de ejeção <40%. Foram realizados: teste da caminhada de seis minutos (TC6M), teste da cadeira (TCAD), teste do degrau (TD), teste de uma repetição máxima (1RM) e questionário de qualidade de vida. RESULTADOS: Os valores obtidos nos testes TC6M (311±27 vs. 447±29), TD (49±3 vs. 81±10) e TCAD (17±1 vs. 21±1) no grupo IC+IVP foram menores do que no grupo IC (p<0,05), respectivamente. O grupo IC+IVP obteve redução do número de degraus alcançados entre o primeiro e o segundo minuto do TD em relação ao grupo IC. O grupo IC apresentou melhor recuperação da FC em relação ao grupo IC+IVP (50±4 vs. 26±3; p<0,05). Não foi encontrada diferença na escala de Borg, na força muscular periférica (1RM) e nos questionários aplicados (p>0,05). CONCLUSÃO: No presente estudo, os participantes com doença mista apresentaram maior comprometimento funcional em relação ao grupo com IC, sem demonstrar piora na qualidade de vida...